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ORPHA:684

Paramyotonia congenita of Von Eulenburg

low confidenceDisorder

Also known as: Paramyotonia congenita

Publications

2,487

Trials

4

Interventional, condition-specific

Researchers

1,053

Distinct authors in sample

Gene link

SCN4A

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

paramyotonia congenita · paramyotonia congenita of Von Eulenburg

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SCN4A

  2. LiteraturePresent

    2,487 matched papers (1,292 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Dysphagia; Handgrip myotonia; Myotonia of the jaw) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (SCN4A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0008195

  • Dysphagia
  • Handgrip myotonia
  • Myotonia of the jaw
  • EMG: myopathic abnormalities
  • Periodic hypokalemic paresis

Showing 5 of 60 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0008195

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,487

2,487 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,487 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,292 in the last 10 years · low confidence

Phrase hits: 812 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,053

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Hanna MG16 papers · 2025

    Queen Square Centre for Neuromuscular Diseases, University College London, London, UK.

    Papers in Europe PMC
  2. 02
    Vivekanandam V9 papers · 2025

    MRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

    Papers in Europe PMC
  3. 03
    Altamura C8 papers · 2025

    Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy.

    Papers in Europe PMC
  4. 04
    Desaphy JF8 papers · 2025

    Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy.

    Papers in Europe PMC
  5. 05
    Matthews E8 papers · 2022

    Institute of Neurology and Medical Research Council Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London, London, England.

    Papers in Europe PMC
  6. 06
    Maggi L7 papers · 2024

    Neuroimmunology and Neuromuscular Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.

    Papers in Europe PMC
  7. 07
    Cannon SC6 papers · 2024

    Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.

    Papers in Europe PMC
  8. 08
    Fontaine B6 papers · 2021

    INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière - ICM and National Reference Center for Muscular Channelopathies, University Hospital Pitié-Salpêtrière, France.

    Papers in Europe PMC
  9. 09
    Vicart S6 papers · 2026

    Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), F-75013, Paris, France.

    Papers in Europe PMC
  10. 10
    Li Y5 papers · 2022

    Department of Neurology, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Paramyotonia congenita of Von Eulenburg — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Paramyotonia congenita of Von Eulenburg" OR "Paramyotonia congenita of the Von Eulenburg" OR "Paramyotonia congenita") OR ("SCN4A" OR "SCN4A syndrome" OR "SCN4A-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Paramyotonia congenita of Von Eulenburg" OR "Paramyotonia congenita of the Von Eulenburg" OR "Paramyotonia congenita"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2487) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:56:11.000Z